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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCL10

Variant:p.R49*

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BCL10

NM_003921.5:p.R49*

hg38:chr1:85270819 T>A

Associated Papers

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

Gamez J et al.

Muscle & Nerve, 1999

10417800 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."